title: Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family.
abstract: We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY.
authors.forename: T G
authors.initials: TG
authors.lastname: Nygaard
authors.forename: J M
authors.initials: JM
authors.lastname: Trugman
authors.forename: J G
authors.initials: JG
authors.lastname: de Yebenes
authors.forename: S
authors.initials: S
authors.lastname: Fahn
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D009656:North America; D010300:Parkinson Disease / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
chemical_list: D007980:Levodopa